Clinical case of semilobar holoprosencephaly

2021 ◽  
Author(s):  
А.В. Серёжкина ◽  
И.Г. Хмелевская ◽  
Н.С. Разинькова ◽  
Т.А. Миненкова ◽  
И.И. Жизневская ◽  
...  
Keyword(s):  
Clinical Case ◽  
Fatal Outcome ◽  
Clinical Manifestations ◽  
Specific Treatment ◽  
Stable Condition ◽  
Horseshoe Kidney ◽  
Structural Defects ◽  
Surgical Interventions ◽  
Ultrasound Diagnostics ◽  
The Brain

Поскольку непосредственные этиологические факторы аномалии развития не известны, в работе выделены основные группы причин, способствующих формированию пороков развития головного мозга. Большое значение отводится ранней диагностике пороков развития, которая позволяет своевременно решить вопрос о возможности пролонгирования беременности, что определяется видом порока, совместимостью с жизнью и прогнозом в отношении постнатального развития. В исследовании рассматриваемого порока развития большую роль играют такие современные методы, как пренатальная ультразвуковая диагностика, нейросонография, рентгеновская компьютерная и магнитно-резонансная томография головного мозга, имеющие достаточно высокую информативность. Указаны сроки гестации, позволяющие выявить структурные дефекты головного мозга. Медико-генетическое консультирование помогает выявить риск появления больного потомства. Проведена дифференциальная диагностика семилобарной с другими формами голопрозэнцефалии. Также отмечены возможные клинические проявления рассматриваемой нозологии. В данной статье представлен клинический случай семилобарной голопрозэнцефалии, диагностированной у мальчика в возрасте 1 месяц. При поступлении мать предъявляла жалобы на срыгивания и периодическое беспокойство сына. Объем и результаты обследования ребенка изложены ниже. Выявлена сопутствующая патология в виде пупочной грыжи, врожденной аномалии развития мочевой системы: подковообразная почка; водянки яичек и головчатой формы гипоспадии. После проведения курса поддерживающей терапии пациент был выписан в стабильном состоянии. В настоящее время специфическое лечение голопрозэнцефалии отсутствует. Оперативные вмешательства на головном мозге проводятся редко ввиду тяжести состояния больных, в связи с чем лечение данной патологии возможно только с помощью хирургической коррекции симптомов. Длительная дыхательная и кардиоваскулярная дисфункция предопределяет летальный исход заболевания. Since the direct etiological factors of developmental abnormalities are not known, the main groups of causes contributing to the formation of brain malformations are identified in the work. Great importance is given to the early diagnosis of malformations, which allows us to timely resolve the issue of the possibility of prolonging pregnancy, which is determined by the type of defect, compatibility with life and the prognosis for postnatal development. In the study of the considered malformation, such modern methods as prenatal ultrasound diagnostics, neurosonography, X-ray computer and magnetic resonance imaging of the brain, which have a sufficiently high informative value, play an important role. The terms of gestation are indicated, which make it possible to identify structural defects of the brain. Medical and genetic counseling helps to identify the risk of the appearance of sick offspring. The differential diagnosis of semilobar with other forms of holoprosencephaly was carried out. Possible clinical manifestations of the nosology under consideration are also noted. This article presents a clinical case of semilobar holoprosencephaly diagnosed in a boy at the age of 1 month. Upon admission, the mother complained of regurgitation and periodic anxiety of her son. The scope and results of the child's examination are set out below. Concomitant pathology was revealed in the form of an umbilical hernia, a congenital abnormality of the development of the urinary system: a horseshoe kidney; dropsy of the testicles and a cephalic form of hypospadias. After a course of maintenance therapy, the patient was discharged in a stable condition. Currently, there is no specific treatment for holoprosencephaly. Surgical interventions on the brain are rarely performed due to the severity of the patients ' condition, and therefore, the treatment of this pathology is possible only with the help of surgical correction of symptoms. Prolonged respiratory and cardiovascular dysfunction determines the fatal outcome of the disease.

scholarly journals Paraneoplastic Vasculitis in a Patient with Astrocytoma of the Brain

2021 ◽  
Vol 11 (1) ◽  
pp. 67-71
Author(s):  
A. V. Yagoda ◽  
A. V. Rybas ◽  
E. N. Danilova ◽  
Yu. V. Gromova
Keyword(s):  
Clinical Case ◽  
Leukocytoclastic Vasculitis ◽  
Clinical Manifestations ◽  
Necrotizing Vasculitis ◽  
Rare Type ◽  
Pulmonary Hypertension Syndrome ◽  
Significant Stenosis ◽  
Idiopathic Pulmonary Hypertension ◽  
Breast And Prostate Cancer ◽  
The Brain

Clinical case of paraneoplastic vasculitis аssociated a brain tumor was presented. Paraneoplastic vasculitis is a rare type of paraneoplastic syndrome. The frequency of detection of paraneoplastic vasculitis in cancer patients is 0.01-5%. In 70% of cases, the manifestation of vasculitis is observed long before the clinical manifestations of the tumor. Most studies report so-called leukocytoclastic vasculitis (allergic) or allergic angiitis. Vasculitis is usually accompanied by slowly progressing tumors such as breast and prostate cancer. It also develops with of stomach cancer, lung cancer, kidney adenocarcinoma, epithelioma, sarcoma, cholangiocarcinoma, other solid tumors, multiple myeloma, non-Hodgkin’s lymphoma. The nosological forms of paraneoplastic vasculitis include called polyarteritis nodosa, hemorrhagic vasculitis, Wegener’s granulomatosis, non-specific aortoarteritis, idiopathic pulmonary hypertension syndrome, thrombovasculitis, allergic hemorrhagic vasculitis, cutaneous vasculitis, systemic necrotizing vasculitis with increased ANCA titer. The patient suffered from paraneoplastic vasculitis with the development of amyloidosis of vascular tissues and arterial hypertension. The progression of the vascular process led to damage of the arteries of the brain and heart, the development of ischemic stroke and hemodynamically significant stenosis of the coronary arteries, the development of acute myocardial infarction complicated by acute heart failure, which caused death. The clinical significance of the case lies in the fact that paraneoplastic vasculitis, which was developed due to a brain astrocytoma with the formation of amyloidosis was firstly described.

scholarly journals NERVE GROWTH FACTOR AND S100B IN BLOOD AND CEREBROSPINAL FLUID AS INDICATORS OF THE SEVERITY OF ISCHEMIC STROKE

2019 ◽  
Vol 19 (1S) ◽  
pp. 34-35
Author(s):  
L P Pivovarova ◽  
I A Voznyuk ◽  
I V Osipova ◽  
E A Gogoleva
Keyword(s):  
Cerebrospinal Fluid ◽  
Ischemic Stroke ◽  
Nerve Growth Factor ◽  
Growth Factor ◽  
Fatal Outcome ◽  
Clinical Manifestations ◽  
Nerve Growth ◽  
Somatic Status ◽  
The Brain ◽  
D Dimer

Aim. To determine the relationship between the content of nerve growth factor (NGF) and S100b with the clinical manifestations of acute ischemic stroke (IS). Material and methods. A total of 17 patients with IS, age 68.5 (67; 78.5) years were examined; comparison group: 15 volunteers, age 65.0 (62.0; 66.5) years. The patients’ condition was assessed by the size of the brain lesion, the NIHSS and mRS, somatic status. Serum and cerebrospinal fluid (CSF) NGF, S100b, IL6, plasma D-dimer (ELISA) were determined at 1, 3, 10 days after IS. Results. We found NGF decreased in a serum of patients IS with a fatal outcome in 1-10 days. The dependency of serum (r = -0.300, p < 0.05) and CSF (r = -0.271, p < 0.05) NGF with the size of the lesion and patients somatic status (r = -0.322, p < 0.05) was discovered. The concentration of S100b increased from 3 days in deceased patients in the CSF and blood. The S100b correlated with the outcome of the disease (r = 0.650, p < 0.01), NIHSS (r = 0.651, p < 0.01), mRS (r = 0.451, p < 0.05). NGF and S100b levels were associated with the increasing of plasma D-dimer and CSF IL-6. Thus the NGF and S100b reflect the brain damage severity and the patients’ condition in the acute IS and associates with inflammation activity.

scholarly journals Congenital Cytomegalovirus Infection - Lessons from a Clinical Case

Folia Medica ◽  
2020 ◽  
Vol 62 (2) ◽  
pp. 403-407
Author(s):  
Zhivka Stoykova ◽  
Liliya Ivanova ◽  
Snejinka Cvetkova ◽  
Diana Yordanova
Keyword(s):  
Latent Infection ◽  
Clinical Manifestations ◽  
Specific Treatment ◽  
Congenital Infection ◽  
Rt Pcr ◽  
Cmv Infection ◽  
Congenital Cytomegalovirus Infection ◽  
Congenital Cytomegalovirus ◽  
Polymerase Chain ◽  
The Brain

Background: Cytomegalovirus (CMV) is a worldwide spread herpes virus that establishes a latent infection after the primary infection. It becomes a major problem in immunocompromised patients and in cases of primary or reactivated infection during pregnancy. CMV is the most common congenital infection and is the leading infectious cause of sensoneural deafness and cerebral mental retardation. Aim: &#1058;o raise the attention to the discordance in our knowledge of cCMV infection and the implementation of the knowledge in prac&shy;tice. Materials and methods: CMV-DNA was extracted from saliva and plasma samples according to the protocol of DNA-Sorb-A, Sacace, Biotechnologies, Italy. Polymerase chain reaction (PCR) was performed using a commercial kit based on the Taq-man principle: Quantitative RT-PCR for CMV-DNA detection (Sacace, Biotechnologies, Italy). The linear range of the CMV Real-TM Quant PCR test is 500-10000000 copies/ml, and the reported sensitivity is 400 copies/ml. Results: The infant was born with clinical manifestations involving development of hepatosplenomegaly, chorioretinitis, anemia, mi&shy;crocephaly and simultaneous dilatation of the brain ventricles. CMV infection was confirmed using modern PCR studies. Conclusions: This case highlights the need for specific virological/PCR tests to be performed for all children with the least suspected congenital infection, especially when there is an option of a specific treatment.

scholarly journals Clinical cases of meningococcal infection caused by Neisseria meningitidis serogroup W

2019 ◽  
Vol 64 (5) ◽  
pp. 114-122
Author(s):  
N. V. Skripchenko ◽  
V. E. Karev ◽  
K. V. Markova ◽  
A. A. Vilnits ◽  
N. F. Pulman
Keyword(s):  
Neisseria Meningitidis ◽  
Fatal Outcome ◽  
Clinical Manifestations ◽  
Meningococcal Infection ◽  
Hemorrhagic Infarction ◽  
Heart Damage ◽  
Clinical Observations ◽  
Wide Range ◽  
Significant Disease ◽  
The Brain

Meningococcal infection remains a socially significant disease due to a wide range of clinical manifestations, severe course with high mortality, reaching 40-80% for certain forms. In recent years we observe a change in the serogroup picture of meningococcal infection, in particular, an increase in the proportion of meningococcal serogroup W, characterized by polymorphism of clinical manifestations. The authors present two their own clinical observations of a generalized form of meningococcal infection with a severe course in adolescents caused by Neisseria meningitidis of W serogroup with fatal outcome. They describe the peculiarities of the cases, namely, inconsistency of the clinical picture at the beginning of the disease and post-mortem changes. The article describes heart damage in the form of focal purulent septic myocarditis and purulent foci of destruction in the brain stem, hemorrhagic infarction of the choroid plexus with hemotamponade of the lateral ventricles of the brain, the predominance of septicopia over septicemia. The revealed changes are likely to reflect clinical and morphological features of meningococcal infection caused by N. meningitidis of serogroup W.

scholarly journals Angiodysplasia Combined with Thymic Aplasia in an Infant: A Rare Clinical Case

2018 ◽  
Vol 17 (4) ◽  
pp. 333-340
Author(s):  
Svetlana A. Hmilevskaya ◽  
Galina N. Masljakowa ◽  
Nikolai I. Zryachkin ◽  
Olga A. Makarowa ◽  
Mikhail M. Bazalitsky ◽  
...  
Keyword(s):  
Clinical Case ◽  
Vascular System ◽  
Vascular Malformations ◽  
Clinical Manifestations ◽  
Severe Pneumonia ◽  
Vascular Lesions ◽  
Pathological Study ◽  
Progressive Heart Failure ◽  
Convulsive Seizures ◽  
The Brain

Background. The prevalence of congenital malformations of the vessels or angiodysplasia ranges from 1:50,000 to 1:5,000,000. Congenital angiodysplasia is a consequence of impaired formation and development of the vascular system in embryogenesis. The aetiology of angiodysplasia remains poorly studied, and the diagnosis involves significant difficulties in some cases. Clinical Case Description. The observation of a rare case of a combined malformation of vessels and thymic aplasia in a female infant is presented. Angiodysplasia included the syndrome of congenital generalised phlebectasia (synonym: congenital telangiectatic marbled skin) combined with multiple vascular malformations with predominant vascular lesions of the brain, lungs, heart, kidneys, and mesentery. Clinically, the disease was characterised by a generalised change in the skin in the form of livedo reticularis accompanied by the development of severe pneumonia, persistent urinary syndrome, neurological symptoms (convulsive seizures, motor disorders), and progressive heart failure. The diagnosis was confirmed in the course of a pathological study. Conclusion. The presented case allows expanding the notion of the variety of clinical manifestations of congenital angiodysplasia, as well as its possible combinations with other malformations.

scholarly journals Stem hemorrhagic stroke: opportunities for rehabilitation

2020 ◽  
pp. 60-65
Author(s):  
Sergii Stadnik ◽  
Oleksii Saiko
Keyword(s):  
Clinical Case ◽  
Hemorrhagic Stroke ◽  
Obstructive Hydrocephalus ◽  
Clinical Manifestations ◽  
Cerebrovascular Diseases ◽  
Working Capacity ◽  
Cerebrovascular Accidents ◽  
Individual Program ◽  
Rehabilitation Measures ◽  
The Brain

The most severe and disabling among various types of cerebrovascular accidents are hemorrhages. High mortality in hemorrhagic stroke is due to the possible development of a generalized convulsive syndrome, accompanied by respiratory failure; a cascade of irreversible biological reactions (dislocation syndrome with wedging, ventricular system hemotamponade with the formation of acute obstructive hydrocephalus); the development of complications associated with forced immobilization of the patient or connecting to a ventilator. The diagnosis of cerebral stem strokes is highly relevant due to the increase in their prevalence in the structure of cerebrovascular diseases. With stem strokes, the prognosis of the disease is worse than with strokes of any other localization, which is explained by the location of many vital centers in these structures. The paper highlights the classification and clinical manifestations of hemorrhages in the brain stem, substantiates the feasibility of rehabilitation measures at all periods of the disease. The use of early individual rehabilitation complex treatment can improve the results of therapy of deeply located hematomas, reducing disability and mortality of patients. The article presents the clinical case of a patient with a stem hemorrhagic stroke, in which, against the background of drug therapy and rehabilitation measures developed according to an individual program, self-care skills and working capacity were fully restored. Key words: hemorrhagic stroke (hemorrhage), stem stroke, hemorrhage in pons, rehabilitation

scholarly journals Characteristics of acute period of traumatic brain injury in children with hemophilia

2017 ◽  
Vol 8 (3) ◽  
pp. 158-163 ◽  
Author(s):  
Valentina I Guzeva ◽  
Inna V Ochrim ◽  
Nadezhda E Maksimova ◽  
Oksana V Guzeva ◽  
Victoria V Guzeva ◽  
...  
Keyword(s):  
Traumatic Brain Injury ◽  
Brain Injury ◽  
Clinical Case ◽  
Clinical Manifestations ◽  
Pathological Process ◽  
Diagnostic Process ◽  
Neuroimaging Data ◽  
Magnetic Resonance Imaging Mri ◽  
A Minor ◽  
The Brain

The clinical picture of traumatic brain injury (TBI) in children is characterized by pronounced polymorphism. To clarify the severity of TBI and the localization of the pathological process, use computed tomography (CT) or magnetic resonance imaging (MRI) of the brain. The aim of the work was to justify the need for neuroimaging to all children with hemophilia with TBI and to determine the correlation between the severity of clinical manifestations and neuroimaging data. The article describes the clinical case of a favorable outcome of an TBI in a toddler child with hemophilia A. The case is of interest to physicians of various specialties and demonstrates the features of the clinical course of acute TBI with hemophilia. The diagnostic process for TBI was based on complaints, clinical and neuroimaging data. Complaints and the circumstances of the injury are known from the mother's words in connection with the early age of the child and the absence of a formed speech. Methods of investigation: collection of complaints and anamnesis of the disease, neurological examinations, laboratory and instrumental data, including neuroimaging data. It is known that the boy fell off the couch, hit the back of the head, did not lose consciousness, there was no vomiting. A day after receiving the injury, there was an increase in cerebral neurological symptoms. Clinically, hematoma is suspected. On the CT of the brain, epidural hematoma was determined. Thus, the presented clinical case illustrates that even a minor head injury in patients with hemophilia can lead to severe consequences. Neuroimaging of the brain with TBI is indicated for all children with hemophilia, regardless of the severity of clinical manifestations.

scholarly journals Hemorrhagic Encephalitis after COVID-19 (Clinical Case)

2021 ◽  
Vol 6 (6) ◽  
pp. 152-157
Author(s):  
I. O. Filiuk ◽  
◽  
O. I. Kalbus ◽  
N. P. Shastun ◽  
D. I. Andreichenko ◽  
...  
Keyword(s):  
Nervous System ◽  
Peripheral Nervous System ◽  
Neurological Disorders ◽  
Clinical Case ◽  
Inflammatory Diseases ◽  
Clinical Manifestations ◽  
Neurological Complications ◽  
Diagnostic Features ◽  
Time Of Admission ◽  
The Brain

COVID-19 is an urgent problem all over the world that affects not only the respiratory system, but also causes many neurological disorders. In connection with the clinical manifestations of COVID-19, further detailed study of neurological complications is required, such as ischemic and hemorrhagic strokes, damage to the peripheral nervous system, and inflammatory diseases of the brain. Some neurological symptoms after an illness may persist for several weeks or even months. Hemorrhagic encephalitis is one such complication of COVID-19. Taking into account the growth of COVID-19 and frequent neurological complications after a previous illness, more and more often patients will seek medical help from a specialist, such as a neurologist, psychologist, psychiatrist. The only protection against COVID-19, which causes serious complications, is vaccination. The purpose of the study was to highlight a rare case of hemorrhagic encephalitis, which developed against the background of the previous COVID-19 disease. Materials and methods. The work is based on a description of a clinical case of hemorrhagic encephalitis in a patient who has undergone COVID-19. The modern literature data on the clinical and diagnostic features and therapeutic possibilities of hemorrhagic encephalitis are presented. Results and discussion. The article examines data on the clinical manifestations of COVID-19, which can occur in both mild and severe forms, reflects the diagnostic criteria of this disease, highlights treatment approaches, discusses in detail and provides data on the main aspects of the pathogenetic mechanisms underlying development of the disease. Complications of COVID-19 have been described, not only from the central and peripheral nervous system, but also from other systems. The second part of the article is presented in the form of a clinical case of hemorrhagic encephalitis against the background of the undergone COVID-19, which was recorded in our hospital. This part of the article describes in detail the patient's complaints and anamnestic data, the data of the somatic and neurological examination at the time of admission to the hospital and in dynamics, and describes the treatment tactics. Attention is especially focused on the cognitive functions of this patient, which will become the reason for seeing a psychiatrist in the future. Conclusion. Neurological complications of COVID-19 are increasingly registered, requiring close attention from neurologists. Hemorrhagic encephalitis can be one of these complications

scholarly journals SCHILDER’S DISEASE (CASE)

2013 ◽  
Vol 12 (5) ◽  
pp. 133-138
Author(s):  
V. M. Alifirova ◽  
T. A. Valikova ◽  
T. N. Nikolaeva ◽  
N. V. Pugachenko ◽  
S. V. Vtorushin
Keyword(s):  
Multiple Sclerosis ◽  
Children And Adolescents ◽  
Clinical Case ◽  
Clinical Manifestations ◽  
Pathological Process ◽  
Disease Case ◽  
Autopsy Data ◽  
Schilder’S Disease ◽  
Diffuse Form ◽  
The Brain

Schilder’s leukoencephalitis was described by American neurologist and psychiatrist P.F. Schilder (1886– 1940). At present the pathology is regarded as acute diffuse form of multiple sclerosis, and it is characterized by demyelination of the brain. Clinical manifestations of pathological process varied. The disease is a rare, usually in children and adolescents. In patients older than 40 years of death can occur in a period of 6 months to 3 years from the onset of the first symptoms. Considering the rarity of the disease, we present a clinical case with autopsy data from our practice. 

scholarly journals CASE OF NEUROFIBROMATOSIS TYPE I WITH ASTROCYTOMA OF THE BRAIN IN THE PRACTICE OF PEDIATRICIAN

2020 ◽  
Vol 75 (3) ◽  
pp. 138-144
Author(s):  
T.N. Buchkova ◽  
◽  
N.I. Zriachkin ◽  
G.I. Chebotareva ◽  
O.V. Tihnenko ◽  
...  
Keyword(s):  
Diagnostic Criteria ◽  
Clinical Case ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
Speech Disorders ◽  
Endocrine Disorders ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Cutaneous Manifestations ◽  
The Brain

The relevance of the topic is due to insufficient awareness of doctors about neurofibromatosis, which leads to a delay in diagnosis and the development of complications. The diagnostic criteria characteristic of this disease, features of the clinical course, possible complications, methods of treatment, features of dispensary observation are described. A clinical case of neurofibromatosis type I with astrocytoma of the brain is described. The diagnosis of neurofibromatosis type I (NFI) was established in a patient aged 4 years 3 months. The peculiarity of the manifestations of this clinical case is the absence of family history; the combination of cutaneous manifestations, multiple lesions of the nervous system, complicated by chronic subdural hematoma, endocrine disorders and extra-cutaneous manifestations (eye symptoms, hearing and speech disorders); the absence of significant positive dynamics despite repeated surgical treatment and long-term polyochemotherapy. Despite the stabilization of clinical manifestations of the disease, this patient has an unfavorable prognosis with possible progression of the pathological process. For early clinical detection of patients with NFI, using for this purpose diagnostic criteria recommended by the International Committee of experts on neurofibromatosis, continuity of management and adequate measures of primary and secondary prevention of complications of NFI is important knowledge of this pathology by primary health care physicians, including pediatricians, district and family doctors, neurologists, dermatologists, ophthalmologists and surgeons.

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